TTI2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the TTI2 gene was identified in a male who passed away at age 2 with symptoms characteristic of You-Hoover-Fong syndrome (read full description).

Date of Report

Jan 25, 2019

Full Name

TELO2 interacting protein 2

Location

Chromosome 8 (8p12)

Function

The TTI2 gene codes for a protein involved in the DNA damage response (NCBI Gene).

Database Links

GeneCards: TTI2

NCBI Gene: 80185

OMIM: 614426

UniProtKB/Swiss-Prot: Q6NXR4

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change, along with a change in the TELO2 gene, is causing symptoms in this participant.

Gene TTI2

Inheritance Pattern Autosomal recessive

Position (hg19) chr8:g.33369995T>C

Transcript NM_001102401.2

DNA Change c.137A>G

Protein Change p.Asn46Ser

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